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Published in 2021 at "Genes"
DOI: 10.3390/genes12081192
Abstract: Phelan-McDermid syndrome (PMS) is a genetic disorder often characterized by autism or autistic-like behavior. Most cases are associated with haploinsufficiency of the SHANK3 gene resulting from deletion of the gene at 22q13.3 or from a…
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Keywords:
mcdermid syndrome;
genetic findings;
gene;
findings potential ... See more keywords